Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature
Pilocytic astrocytoma is a low-grade glial neoplasm of the central nervous system (CNS) that tends to occur in the pediatric population and less commonly presents in adults. Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene r...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2020/5903863 |
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| author | Siobhan S. Pattwell Eric Q. Konnick Yajuan J. Liu Rebecca A. Yoda Laligam N. Sekhar Patrick J. Cimino |
| author_facet | Siobhan S. Pattwell Eric Q. Konnick Yajuan J. Liu Rebecca A. Yoda Laligam N. Sekhar Patrick J. Cimino |
| author_sort | Siobhan S. Pattwell |
| collection | DOAJ |
| description | Pilocytic astrocytoma is a low-grade glial neoplasm of the central nervous system (CNS) that tends to occur in the pediatric population and less commonly presents in adults. Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. NTRK2 encodes for the protein tropomyosin receptor kinase B (TrkB), which is a neurotrophin receptor with high affinity for Brain-Derived Neurotrophic Factor (BDNF), and plays a role in several physiological functions of neurons, including cell survival and differentiation. In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms. |
| format | Article |
| id | doaj-art-62c4dbf01dc149e0ae4df48e9d5b416b |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-62c4dbf01dc149e0ae4df48e9d5b416b2025-02-03T01:27:03ZengWileyCase Reports in Pathology2090-67812090-679X2020-01-01202010.1155/2020/59038635903863Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the LiteratureSiobhan S. Pattwell0Eric Q. Konnick1Yajuan J. Liu2Rebecca A. Yoda3Laligam N. Sekhar4Patrick J. Cimino5Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USADepartment of Laboratory Medicine, University of Washington, Seattle, WA, USADepartment of Pathology, Division of Neuropathology, University of Washington, Seattle, WA, USADepartment of Pathology, Division of Neuropathology, University of Washington, Seattle, WA, USADepartment of Neurological Surgery, University of Washington, Seattle, WA, USADepartment of Pathology, Division of Neuropathology, University of Washington, Seattle, WA, USAPilocytic astrocytoma is a low-grade glial neoplasm of the central nervous system (CNS) that tends to occur in the pediatric population and less commonly presents in adults. Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. NTRK2 encodes for the protein tropomyosin receptor kinase B (TrkB), which is a neurotrophin receptor with high affinity for Brain-Derived Neurotrophic Factor (BDNF), and plays a role in several physiological functions of neurons, including cell survival and differentiation. In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms.http://dx.doi.org/10.1155/2020/5903863 |
| spellingShingle | Siobhan S. Pattwell Eric Q. Konnick Yajuan J. Liu Rebecca A. Yoda Laligam N. Sekhar Patrick J. Cimino Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature Case Reports in Pathology |
| title | Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature |
| title_full | Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature |
| title_fullStr | Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature |
| title_full_unstemmed | Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature |
| title_short | Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature |
| title_sort | neurotrophic receptor tyrosine kinase 2 ntrk2 alterations in low grade gliomas report of a novel gene fusion partner in a pilocytic astrocytoma and review of the literature |
| url | http://dx.doi.org/10.1155/2020/5903863 |
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